Different clinical and neuroimaging features of Japanese dementia siblings with a new N-terminal mutation (Val225Ala) of APP gene
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Neuroscience"
DOI: 10.1016/j.jocn.2019.11.009
Abstract: Autosomal dominant amyloid precursor protein (APP) mutations in familial Alzheimer's disease accelerate the amyloid beta (Aβ) pathology. Here we describe Japanese siblings with a new N-terminal mutation (a heterogeneous c.674T>C, p.Val225Ala) of the APP gene,… read more here.
Keywords: new terminal; app gene; terminal mutation; different clinical ... See more keywords
The Impact of APP on Alzheimer-like Pathogenesis and Gene Expression in Down Syndrome iPSC-Derived Neurons
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DOI: 10.1016/j.stemcr.2018.05.004
Abstract: Summary Early-onset Alzheimer disease (AD)-like pathology in Down syndrome is commonly attributed to an increased dosage of the amyloid precursor protein (APP) gene. To test this in an isogenic human model, we deleted the supernumerary… read more here.
Keywords: app gene; gene expression; pathogenesis; expression ... See more keywords
A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene
Sign Up to like & getrecommendations! Published in 2017 at "Nucleosides, Nucleotides and Nucleic Acids"
DOI: 10.1080/15257770.2016.1267361
Abstract: ABSTRACT We report a patient, an infant with a neurodevelopmental disorder manifesting intractable complex partial epilepsy, bull's eye maculopathy, microcephaly, bilateral cataracts, truncal hypotonia, and spasticity of all four extremities. Sequencing of genomic DNA revealed… read more here.
Keywords: gene; app gene; antigen domain; neurodevelopmental disorder ... See more keywords